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1 <tool id="table_annovar" name="ANNOVAR Annotate VCF" version="0.1">
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2 <description>with functional information using ANNOVAR</description>
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3
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4 <requirements>
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5 <requirement type="package">annovar</requirement>
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5
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6 <requirement type="set_environment">SCRIPT_PATH</requirement>
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7 </requirements>
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8
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9 <command>
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10 ## Convert VCF to AV input format.
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11 convert2annovar.pl -format vcf4 -includeinfo ${input} > input.avinput
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12
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13 ## Variant annotation; make sure to include entry in indexes table for build database.
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14
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15 #set protocol = []
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16 #set operation = []
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17
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18 ## Add gene annotations.
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19 #if $gene_anns:
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20 #silent protocol.append( str( $gene_anns ) )
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21 #silent operation.append( ','.join( ['g' for t in range( str($gene_anns).count(',') + 1 )] ) )
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22 #end if
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23
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24 ## Add regions.
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25 #if $regions:
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26 #silent protocol.append( str( $regions ) )
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27 #silent operation.append( ','.join( ['r' for t in range( str($regions).count(',') + 1 )] ) )
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28 #end if
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29
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30 ## Add filters.
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31 #if $filters:
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32 #silent protocol.append( str( $filters ) )
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33 #silent operation.append( ','.join( ['f' for t in range( str($filters).count(',') + 1 )] ) )
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34 #end if
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35
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36 #set protocol = ','.join( $protocol )
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37 #set operation = ','.join( $operation )
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38
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39 ## Reduce variants.
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40 ; table_annovar.pl input.avinput ${__get_data_table_entry__('annovar_indexes', 'dbkey', $input.dbkey, 'path')} -protocol ${protocol} -operation ${operation} -nastring NA -buildver ${input.dbkey} --outfile output
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41
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42 ## Process annotated table to remove "NA" strings from numerical columns and copy to output.
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43 ; cat output.${input.dbkey}_multianno.txt | \$SCRIPT_PATH/replace_NA.py > ${output}
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44 </command>
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45
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46 <inputs>
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47 <param name="input" type="data" format="vcf" metadata_name="dbkey" label="Variants" help="">
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48 <validator type="unspecified_build" />
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49 </param>
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50
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51 <param name="gene_anns" type="select" multiple="True" optional="True" label="Gene Annotations" help="" >
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52 <options from_data_table="annovar_indexes">
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53 <filter type="data_meta" key="dbkey" ref="input" column="1"/>
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54 <filter type="static_value" name="type" value="gene_ann" column="2"/>
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55 </options>
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56 </param>
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57
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58 <param name="regions" type="select" multiple="True" optional="True" label="Annotation Regions" help="" >
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59 <options from_data_table="annovar_indexes">
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60 <filter type="data_meta" key="dbkey" ref="input" column="1"/>
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61 <filter type="static_value" name="type" value="region" column="2"/>
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62 </options>
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63 </param>
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64
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65 <param name="filters" type="select" multiple="True" label="Annotation Databases" help="" >
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66 <options from_data_table="annovar_indexes">
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67 <filter type="data_meta" key="dbkey" ref="input" column="1"/>
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68 <filter type="static_value" name="type" value="filter" column="2"/>
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69 </options>
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70 </param>
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71 </inputs>
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72
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73 <stdio>
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74 <regex match=".*" source="both" level="log" description="tool progress"/>
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75 </stdio>
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76
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77 <outputs>
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78 <data name="output" format="tabular"/>
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79 </outputs>
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80
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81 <tests>
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82 </tests>
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83
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84 <help>
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85 **What it does**
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86
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87 This tool will annotate variants using specified gene annotations, regions, and filtering databases. Input is a VCF dataset, and output is a table of annotations for each variant in the
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88 VCF dataset.
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89
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90 **ANNOVAR Website and Documentation**
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91
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92 Website: http://www.openbioinformatics.org/annovar/
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93
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94 Paper: http://nar.oxfordjournals.org/content/38/16/e164
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95
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96 **Important Usage Note**
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97
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98 ANNOVAR is open-source and free for non-profit use. If you use it for commercial purposes, please contact BIOBASE (info@biobase-international.com) directly for license related issues. Also see http://www.openbioinformatics.org/annovar/annovar_faq.html#license
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99
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100 </help>
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101 </tool>
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